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J Korean Med Sci. 2011 Aug;26(8):1099-102. doi: 10.3346/jkms.2011.26.8.1099. Epub 2011 Jul 28.

Development of acute megakaryoblastic leukemia with isochromosome (12p) after a primary mediastinal germ cell tumor in Korea.

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Department of Laboratory Medicine, Chung-Ang University College of Medicine, Seoul, Korea.


The association of hematological malignancies with a mediastinal germ cell tumor (GCT) is very rare. We report one case of a young adult male with primary mediastinal GCT who subsequently developed acute megakaryoblastic leukemia involving isochromosome (12p). A 25-yr-old man had been diagnosed with a mediastinal GCT and underwent surgical resection and adjuvant chemotherapy. At 1 week after the last cycle of chemotherapy, his peripheral blood showed leukocytosis with blasts. A bone marrow study confirmed the acute megakaryoblastic leukemia. A cytogenetic study revealed a complex karyotype with i(12p). Although additional chemotherapy was administered, the patient could not attain remission and died of septic shock. This case was definitely distinct from therapy-related secondary leukemia in terms of clinical, morphologic, and cytogenetic features. To our knowledge, this is the first case report of a patient with mediastinal GCT subsequently developing acute megakaryoblastic leukemia involving i(12p) in Korea.


Acute Megakaryoblastic Leukemia; Isochromosome (12p); Mediastinal Germ Cell Tumor

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